MYL3 (myosin light chain 3)

Gene

• Entrez ID: 4634
• Gene name: Myosin light chain 3
• Gene symbol: MYL3
• Synonyms (NCBI Gene): CMH8, MLC-lV/sb, MLC1SB, MLC1V, VLC1, VLCl
• Disease Acronyms (UniProt): CMH8
• Chromosome: 3
• Chromosome location: 3p21.31
• Summary: MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypert

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893748	T>C	Pathogenic	Missense variant, coding sequence variant
rs104893749	C>A,T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs104893750	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic, pathogenic-likely-pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs139794067	G>A,C,T	Pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs145520567	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs150634297	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs199474703	C>T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs199474705	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199474706	G>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199474707	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs567723663	G>A,C	Likely-pathogenic	Intron variant
rs730880162	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs730880954	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs730880955	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs730880960	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs730880962	A>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs869025485	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs869025486	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064793448	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1427839320	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002026	Process	Regulation of the force of heart contraction	IMP	16675844
GO:0003774	Function	Motor activity	IEA
GO:0003785	Function	Actin monomer binding	IDA	16675844
GO:0005509	Function	Calcium ion binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005859	Component	Muscle myosin complex	TAS	2789520
GO:0006942	Process	Regulation of striated muscle contraction	IMP	16675844
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0008307	Function	Structural constituent of muscle	TAS	2789520
GO:0030017	Component	Sarcomere	TAS	16754800
GO:0030049	Process	Muscle filament sliding	TAS
GO:0031672	Component	A band	IDA	16675844
GO:0031674	Component	I band	IDA	16675844
GO:0032038	Function	Myosin II heavy chain binding	NAS	16675844
GO:0032781	Process	Positive regulation of ATPase activity	ISS	16675844
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	8673105, 16754800
GO:0060048	Process	Cardiac muscle contraction	IMP	16675844

Other IDs

• MIM: 160790
• HGNC: 7584
• e!Ensembl: ENSG00000160808

Protein

• UniProt ID: P08590
• Protein name: Myosin light chain 3 (Cardiac myosin light chain 1) (CMLC1) (Myosin light chain 1, slow-twitch muscle B/ventricular isoform) (MLC1SB) (Ventricular myosin alkali light chain) (Ventricular myosin light chain 1) (VLCl) (Ventricular/slow twitch myosin alkali
• Protein function: Regulatory light chain of myosin. Does not bind calcium.
• PDB: 5TBY, 8ACT, 8G4L
• Sequence:

  MAPKKPEPKKDDAKAAPKAAPAPAPPPEPERPKEVEFDASKIKIEFTPEQIEEFKEAFML
  FDRTPKCEMKITYGQCGDVLRALGQNPTQAEVLRVLGKPRQEELNTKMMDFETFLPMLQH
  ISKNKDTGTYEDFVEGLRVFDKEGNGTVMGAELRHVLATLGERLTEDEVEKLMAGQEDSN
  GCINYEAFVKHIMSS

• Sequence length: 195

Associated diseases

Unknown
Disease term	Disease name	Evidence	References	Source
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy 8, hypertrophic cardiomyopathy			GenCC
Myopathy	dilated cardiomyopathy			GenCC
Ventricular Cardiomyopathy	arrhythmogenic right ventricular cardiomyopathy			GenCC
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Apical Hypertrophic Cardiomyopathy	Associate	35288424
Atrial Fibrillation	Associate	20641121
Cardiomyopathies	Associate	22194935, 35544052, 37477868
Cardiomyopathy Dilated	Associate	26458567
Cardiomyopathy Familial Hypertrophic 1	Associate	26443374
Cardiomyopathy Hypertrophic	Associate	16199542, 20641121, 21896538, 25086479, 25342278, 26443374, 27483260, 28771489, 29914921, 30681346, 35288424, 37431535, 37466024, 37477868, 39340495
Cardiomyopathy Hypertrophic Familial	Associate	22112859, 35288424
Cardiomyopathy Restrictive	Associate	21823217
Colorectal Neoplasms	Associate	9748578
Death Sudden Cardiac	Associate	35288424
Death Sudden Cardiac	Stimulate	37284852
Heart Diseases	Associate	34490485
Hypertrophy	Associate	26443374
Hypertrophy Left Ventricular	Associate	30681346
Iron Overload	Associate	34490485
Muscle Neoplasms	Associate	25531450
Muscular Dystrophies	Associate	24920607
Squamous Cell Carcinoma of Head and Neck	Associate	37679666